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Familial hypercholesterolemia is a genetic disorder!

Familial hypercholesterolemia is a genetic disorder. A defect on chromosome 19 causes it. In this, the body from the blood is unable to remove LDL or bad cholesterol. People usually develop symptoms in childhood if they inherit the condition from both parents. In an autosomal dominant manner, this condition is typically passed down through families. This means a person needs to get the abnormal gene from one parent to inherit the disease.

Cholesterol is a waxy substance found in the cell that can be dangerous when it builds up on artery walls. High cholesterol can cause atherosclerosis and an increase in stroke and heart attack.

FH is the most common form of inherited high cholesterol, which affects 1 in every 500 people. In specific European populations, some studies have shown that it runs as high as 1 in every 250 people in specific. FH is generally more severe. For a person with the familial version, the cholesterol levels will be much higher, and heart disease will happen much younger age. It is also known as type 2 hyperlipoproteinemia.

High cholesterol often has no symptoms. Before a person notices anything, the damage might have been done. Some symptoms include chest pain with activity, xanthomas, cholesterol deposits around the eyelids, gray-white cholesterol deposits around the corneas, sores on the toes that do not heal, sudden stroke-like symptoms. Xanthomas are fatty deposits often found in tendons and on the elbows, buttocks, and knees. For a person with the disease, a blood test will reveal their LDL cholesterol level, total cholesterol level or both are high. 

There are currently three known FH genes, and each gene is located on a different chromosome. In most cases, the disease results from inheriting one of the genes or pairs of genes. People who have this condition are born with it. According to researchers, particular combinations of genetic material lead to the problem in some cases. FH is more common among certain ethnic or racial groups, such as French Canadian, Finnish, Lebanese, and Dutch descent. A person who has a close family member with the disease is at higher risk. 

Diagnoses of Familial hypercholesterolemia –

  • The doctor will conduct a physical exam in which cholesterol deposits will be checked in the skin around the hand, eyes, elbows, knees.
  • Detailed family history is an essential factor in the diagnosis of the disease. Doctors will determine if a person’s grandparents, uncles, aunts, parents, siblings ever had heart disease or high cholesterol levels, especially during childhood.
  • Blood will also be done by doctors, which will help to determine cholesterol levels. The result will indicate that a person has high levels of LDL and total cholesterol. A person’s 1st cholesterol test should occur between the age of 9 to 11, says National Heart, Lung, and Blood Institute, and then be repeated after every five years. For families with a history of childhood heart disease, earlier or, more-frequent screenings may be suggested.
  • In milligrams of cholesterol per deciliter of blood, cholesterol levels are measured in the US. Cholesterol levels are measured in millimoles per liter in Canada and many European countries.
  • For diagnoses of FS, there are main sets of criteria. This includes the Simon Broome criteria, the Dutch Lipid Clinic Network criteria and the MEDPED criteria. 
  • With the Simon Broome criteria, total cholesterol will be more than 260 milligrams per deciliter in children under 16 years old and 290 mg/dL in adults or LDL cholesterol will be more than 155 mg/dL in children 190 mg/dL in adults.
  • A score to elevated cholesterol levels starting at LDL more significant than 155 mg/dL is given by the Dutch Lipid Clinic Network criteria.
  • Cutoffs for total cholesterol based on family history and age are provided by the MEDPED standards.
  • Doctors will also test triglycerides, which are made up of fatty acids. For people with this condition, triglyceride levels tend to be expected. Normal results are below 150 mg/dL.
  • A genetic test can confirm the disease as well, but it is not always necessary. It helps to find out if other family members are at risk of developing the disease.
  • If a person is affected by the disease, doctors usually recommend that 1st-degree relatives be checked for the disorder. If needed, this will allow treatment to begin early.
  • The treatment focuses on reducing the extremely high levels of LDL. This helps lower the risk of heart attack and death.

Treatment of Familial hypercholesterolemia –

  • It is treated with diet. But treating with medication is also a must. To delay the onset of heart disease, heart attack, and other complications and reduce cholesterol successfully, combining both is a must.
  • Along with prescribing, the medical doctors will ask to modify diet and do exercise.
  • Lean protein should be increased.
  • Reduce pork and red meat.
  • Usage of olive oil or canola oil.
  • Switching from full-fat dairy to low-fat dairy products.
  • Eat more vegetables, fruits, and nuts.
  • Limited soda, sweetened drinks, and alcohol.
  • Losing weight can also lower cholesterol. 
  • The most common drugs include Statins, Ezetimibe, PCSK9 inhibitors. A substance the liver needs to make cholesterol is blocked by Statins. The absorption of cholesterol contained in the food eaten is limited by Ezetimibe. For the liver to absorb more LDL cholesterol, PCSK9 inhibitors are used that lowers cholesterol circulating in the blood.
  • In severe cases, people may need to undergo a procedure that filters the excess cholesterol from their blood. Liver transplants may be necessary for some people.

Possible complications –

  • Heart attack at an early age. Heart attacks may occur before the age of 60 in women and before age 50 in men. 
  • Heart disease.
  • Stroke.
  • Peripheral vascular disease.

Conclusion –

How well a person will recover depends upon how well they follow the doctor’s advice. Making diet changes, exercising, and taking medicines correctly can lower cholesterol levels. These changes can help to delay heart attacks. Men and women who have the disease have an increased risk of a heart attack at an early age. The risk of death varies among people. If a person inherits two copies of the defective genes, then they have a poorer outcome. That type of disease does not respond well to the treatment and may cause an early heart attack.


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